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Journal Abstract Search

180 related items for PubMed ID: 24714983

  • 1. Comprehensive functional annotation of 18 missense mutations found in suspected hemochromatosis type 4 patients.
    Callebaut I, Joubrel R, Pissard S, Kannengiesser C, Gérolami V, Ged C, Cadet E, Cartault F, Ka C, Gourlaouen I, Gourhant L, Oudin C, Goossens M, Grandchamp B, De Verneuil H, Rochette J, Férec C, Le Gac G.
    Hum Mol Genet; 2014 Sep 01; 23(17):4479-90. PubMed ID: 24714983
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  • 2. Characterization of three novel pathogenic SLC40A1 mutations and genotype/phenotype correlations in 7 Italian families with type 4 hereditary hemochromatosis.
    Majore S, Bonaccorsi di Patti MC, Valiante M, Polticelli F, Cortese A, Di Bartolomeo S, De Bernardo C, De Muro M, Faienza F, Radio FC, Grammatico P, Musci G.
    Biochim Biophys Acta Mol Basis Dis; 2018 Feb 01; 1864(2):464-470. PubMed ID: 29154924
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  • 3. Deciphering the molecular basis of ferroportin resistance to hepcidin: Structure/function analysis of rare SLC40A1 missense mutations found in suspected hemochromatosis type 4 patients.
    Le Tertre M, Ka C, Guellec J, Gourlaouen I, Férec C, Callebaut I, Le Gac G.
    Transfus Clin Biol; 2017 Nov 01; 24(4):462-467. PubMed ID: 28826751
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  • 4. A novel SLC40A1 p.Y333H mutation with gain of function of ferroportin: A recurrent cause of haemochromatosis in China.
    Zhang W, Xu A, Li Y, Zhao S, Zhou D, Wu L, Zhang B, Zhao X, Wang Y, Wang X, Duan W, Wang Q, Nan Y, You H, Jia J, Ou X, Huang J, China Registry of Genetic/Metabolic Liver Diseases (CR-GMLD) Group.
    Liver Int; 2019 Jun 01; 39(6):1120-1127. PubMed ID: 30500107
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  • 5. The SLC40A1 R178Q mutation is a recurrent cause of hemochromatosis and is associated with a novel pathogenic mechanism.
    Ka C, Guellec J, Pepermans X, Kannengiesser C, Ged C, Wuyts W, Cassiman D, de Ledinghen V, Varet B, de Kerguenec C, Oudin C, Gourlaouen I, Lefebvre T, Férec C, Callebaut I, Le Gac G.
    Haematologica; 2018 Nov 01; 103(11):1796-1805. PubMed ID: 30002125
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  • 6. The dual loss and gain of function of the FPN1 iron exporter results in the ferroportin disease phenotype.
    Uguen K, Le Tertre M, Tchernitchko D, Elbahnsi A, Maestri S, Gourlaouen I, Férec C, Ka C, Callebaut I, Le Gac G.
    HGG Adv; 2024 Oct 10; 5(4):100335. PubMed ID: 39039793
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  • 7. Splicing analysis of SLC40A1 missense variations and contribution to hemochromatosis type 4 phenotypes.
    Le Tertre M, Ka C, Raud L, Berlivet I, Gourlaouen I, Richard G, Uguen K, Chen JM, Férec C, Fichou Y, Le Gac G.
    Blood Cells Mol Dis; 2021 Mar 10; 87():102527. PubMed ID: 33341511
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  • 8. Type 4B hereditary hemochromatosis due to heterozygous p.D157A mutation in SLC40A1 complicated with hypopituitarism.
    Honma Y, Karasuyama T, Kumamoto K, Shimajiri S, Toki Y, Tatsumi Y, Sumida K, Koikawa K, Morino K, Oe S, Miyagawa K, Yamasaki M, Shibata M, Abe S, Ikuta K, Hayashi H, Harada M.
    Med Mol Morphol; 2021 Mar 10; 54(1):60-67. PubMed ID: 32607777
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  • 11. SLC40A1 c.1402G-->a results in aberrant splicing, ferroportin truncation after glycine 330, and an autosomal dominant hemochromatosis phenotype.
    Lee PL, Gelbart T, West C, Barton JC.
    Acta Haematol; 2007 Mar 10; 118(4):237-41. PubMed ID: 18160816
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  • 12. Type 4B hereditary hemochromatosis associated with a novel mutation in the SLC40A1 gene: A case report and a review of the literature.
    Zhang W, Lv T, Huang J, Ou X.
    Medicine (Baltimore); 2017 Sep 10; 96(38):e8064. PubMed ID: 28930842
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  • 13. Heterozygous Mutations in BMP6 Pro-peptide Lead to Inappropriate Hepcidin Synthesis and Moderate Iron Overload in Humans.
    Daher R, Kannengiesser C, Houamel D, Lefebvre T, Bardou-Jacquet E, Ducrot N, de Kerguenec C, Jouanolle AM, Robreau AM, Oudin C, Le Gac G, Moulouel B, Loustaud-Ratti V, Bedossa P, Valla D, Gouya L, Beaumont C, Brissot P, Puy H, Karim Z, Tchernitchko D.
    Gastroenterology; 2016 Mar 10; 150(3):672-683.e4. PubMed ID: 26582087
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  • 14. Structure-function analysis of the human ferroportin iron exporter (SLC40A1): effect of hemochromatosis type 4 disease mutations and identification of critical residues.
    Le Gac G, Ka C, Joubrel R, Gourlaouen I, Lehn P, Mornon JP, Férec C, Callebaut I.
    Hum Mutat; 2013 Oct 10; 34(10):1371-80. PubMed ID: 23784628
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  • 15. Hereditary hemochromatosis type 1 phenotype modifiers in Italian patients. The controversial role of variants in HAMP, BMP2, FTL and SLC40A1 genes.
    Radio FC, Majore S, Aurizi C, Sorge F, Biolcati G, Bernabini S, Giotti I, Torricelli F, Giannarelli D, De Bernardo C, Grammatico P.
    Blood Cells Mol Dis; 2015 Jun 10; 55(1):71-5. PubMed ID: 25976471
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